ClinVar Miner

Submissions for variant NM_170707.4(LMNA):c.705del (p.Glu236fs)

dbSNP: rs1651401067
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001206410 SCV001377718 pathogenic Charcot-Marie-Tooth disease type 2 2019-06-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu236Serfs*244) in the LMNA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LMNA-related conditions. Loss-of-function variants in LMNA are known to be pathogenic (PMID: 18585512, 18926329). For these reasons, this variant has been classified as Pathogenic.

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